HEMOCHROMATOSIS is a topic covered in the Harrison's Manual of Medicine.

To view the entire topic, please or purchase a subscription.

Harrison’s Manual of Medicine 19th edition provides 600+ internal medicine topics in a rapid-access format. Download Harrison’s App to iPhone, iPad, and Android smartphone and tablet. Explore these free sample topics:

Harrison’s Manual of Medicine - App + Web

-- The first section of this topic is shown below --

Hemochromatosis is a disorder of iron storage that results in increased intestinal iron absorption with Fe deposition and damage to many tissues. The classic clinical constellation of hemochromatosis is a pt presenting with bronze skin, liver disease, diabetes, arthropathy, cardiac conduction abnormalities, and hypogonadism. Two major causes of hemochromatosis exist: hereditary (due to inheritance of mutant HFE genes) and secondary iron overload (usually the result of ineffective erythropoiesis, such as thalassemia or sideroblastic anemia). HFE encodes a protein that is involved in cellular iron sensing and in regulating intestinal iron absorption. HFE mutations are very common in populations of Northern European origin (1 in 10 is a carrier). Heterozygotes are asymptomatic; homozygotes show a disease penetrance of ~30%. There is progressive iron overload, with clinical manifestations appearing after age 30–40, typically earlier in men than in women. Alcoholic liver disease and chronic excessive Fe ingestion may also be associated with a moderate increase in hepatic Fe and elevated body Fe stores.

-- To view the remaining sections of this topic, please or purchase a subscription --